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Newborn Screening

Genetic Alliance believes that newborns should be screened for specific genetic conditions. Currently, every state screens newborns for a broad range of genetic disorders. Most of the birth defects have no immediate visible effects on an infant but, unless detected and treated early, they can have negative effects on physical and mental development. Presently all U.S. states screen newborns for phenylketonuria (PKU), a disorder where the infant cannot process a part of protein found in nearly all foods called phenylalanine. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. When PKU is detected early, mental retardation can be prevented. Along with PKU, all states screen newborns for hypothyroidism, and most screen for galactosemia.

What resources does Genetic Alliance have on newborn screening?

Genetic Alliance currently staffs a web resource called Baby’s First Test. Baby’s First Test contains state-specific information on newborn screening as well as other educational resources such as what to expect from the newborn screening process, condition specific information, and an interactive blog.

What are some recent policy developments regarding newborn screening?

As we celebrate Newborn Screening Awareness Month, time is running out for the babies of this country! The House passed the Newborn Screening Saves Lives Reauthorization Act (H.R. 1281) in June, but the Senate still has not acted on the final passing of the bill. Tell your Senator to pass the Newborn Screening Saves Lives Reauthorization Act. It is critical that this legislation is passed soon. In merely two weeks, Congress will adjourn for elections and leave DC. This legislation must pass before they leave. Here is how you can help:

Join the Sign on Letter! We have drafted a letter to the Chairman and Ranking Member of the Senate Committee on Health, Education, Labor, and Pensions to ask for this legislation to be passed before the election recess. Please send your Name, Organization, City, and State to Kyle McEvilly (kmcevilly@geneticalliance.org) by Friday, September 12th at 12pm Noon EDT.

Sign on Letter:

Dear Chairman Harkin and Ranking Member Alexander,

For over 50 years, babies born in this country have received the best level of care through newborn screening. We represent millions of families who are in support of giving the newborns of this country the best chance at a healthy start in life. Please pass the Newborn Screening Saves Lives Reauthorization Act (H.R. 1281).

Each year, more than 5,000 babies are found to have a serious, but treatable condition through newborn screening. The Newborn Screening Saves Lives Reauthorization Act will ensure that this public health system will continue to detect and treat newborns born with a range of genetic conditions. Thank you for your leadership in keeping babies healthy.

Subcommittee Hearing - Newborn Screening Saves Lives: The Past, Present, and Future of the Newborn Screening System: See Natasha Bonhomme's testimony to the HELP subcommittee on children and families. Copy of testimony

In August of 2013, Senators Kay Hagan (D-NC) and Orin Hatch (R-UT) introduced the Newborn Screening Saves Lives Reauthorization Act in the Senate. For a one-page summary of the bill from Senator Hagan, click here. If you'd like to read a press release from Senator Hatch, please follow this link.

The legislation has several changes from the House version. Here is a summary of the bill changes.

CDC Surveillance Grant Program: Key activities within the new CDC surveillance grant program that are in the House legislation were altered to allow US Department of Health and Human Services to conduct newborn surveillance activities without creating a new grant program.

Reduction in Time Secretary has to Accept or Reject a Recommendation: Under the Senate legislation, the Secretary will have 60 days to adopt or reject Advisory Committee recommendations to the Recommended Uniform Screening Panel (RUSP). Under the Senate legislation, should the Secretary fail to act, the condition will be automatically added to the RUSP.

Creation of a Priority Review: The Senate legislation creates a new priority review process for conditions nominated to the RUSP that have a drug treatment designated by the Secretary as "fast-track" or "breakthrough therapy." Under priority review, the Committee would have eight months from the time the nomination is accepted for evidence review or the date the drug treatment is approved by FDA (the later of the two), to vote on the condition. Non-priority review conditions would have ten months from the time the nomination is accepted for evidence review.